2SNPsSingle nucleotide polymorphisms regions of DNA where one base pair is different. Occur evenly spread over all the DNA. 1/ 1000-3000 bp Detected by sequencing. If SNP occurs in a restriction enzyme site, it generates an RFLP. Could be in coding or non-coding regions. Over 300,000 human SNPs known and are being mapped. 3SNP 4RFLPs

Restriction fragment length polymorphism.

Any difference in the DNA that results in a restriction enzyme producing a different sized piece.

Mutation at a restriction site prevents recognition cutting.

Results in one band of larger DNA instead of 2 smaller ones.

Different numbers of repeats between restriction recognition sites also generates an RFLP

5RFLPswww.ncbi.nlm.nih.gov/.../doc/TechRFLP.shtml DNA marker may be associated with genetic condition. 6VNTRs and STRPs as RFLPs Minisatellites and Microsatellites

These are RFLPs because they are defined by or visible following restriction enzyme cuts.

Variable Number Tandem Repeats

Groups (10-100) of nucleotides repeated 2 100 times (depending on individual and locus).

Restriction sites on both sides of repeated DNA

The more repeats, the longer the fragment.

Simple Tandem Repeat Polymorphisms

Shorter, 2-9 nucleotides repeated

Small enough number for PCR amplification

Also called STRs, SSLPs, etc.

7Use of VNTRsRestriction sites are on either side fragment length depends on number of repeats in between sites. 8STRPsPrimers for both sides of repeated region allow PCR amplification of DNA generates PCR products that differ in length depending on number of repeats. Becoming the standard method for DNA testing in forensics labs. Cheaper, easier, more sensitive. 9Hardy-Weinberg meets Gil Grissom

Simple tandem repeats

13 have been chosen for use in forensic work

The 13 independently assort, meaning they are on different chromosomes or far apart on the same.

Product law can be used

Each of the 13 have a number of different alleles

Alleles differ by number of repeats

Repeats vary from 3 to 5. vWA is a tetranucleotide.

Allele frequencies p1, p2, etc. for each allele

Humans are diploid, have 2 alleles for each locus

10STRs in forensics

Locus vWA

14 0.081

15 0.107

15.2 0.179

16 0.306

17 0.192

18 0.089

19 0.047

Alleles in different ethnic and racial groups examined, used as database. Panel of 13 different STRs are used. Because the odds of a particular combination of the 13 is product of the frequencies, numbers like 1 in 10 billion can be generated. Hardy-Weinberg 2pqBand frequency 11THE 13 CODIS STRs and probabilities of Identity http//expertpages.com/news/dna.htm 12Allele frequencies for D1S80 among US population groupsChance of a white person being heterozygous for alleles 19 and 20 2 x 0.003 x 0.018 (One in 9,259) 13RAPD using PCR to find polymorphisms

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